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Results 1 - 10 of 371 for Impaired T cell function
  1. POFUT1 gene 
    ... and symptoms of this condition are due to impaired Notch signaling or disruption of an unknown function of protein O-fucosyltransferase 1 in melanocytes or other skin cells. More About This Health Condition FUT12 KIAA0180 O-Fuc-T o-fucosyltransferase protein O-FucT-1 O-FUT ...
    https://medlineplus.gov/genetics/gene/pofut1 - Genetics
  2. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 
    ... the MAGT1 gene impair the magnesium transporter's function, reducing the amount ... lymphoma. Impaired production of CD4+ T cells resulting from abnormal ...
    https://medlineplus.gov/...pstein-barr-virus-infection-and-neoplasia - Genetics
  3. MAGT1 gene 
    ... MAGT1 gene mutations impair the magnesium transporter's function, reducing the ... lymphoma. Impaired production of CD4+ T cells resulting from abnormal ...
    https://medlineplus.gov/genetics/gene/magt1 - Genetics
  4. Peters plus syndrome 
    ... is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but ... pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  5. GFAP gene 
    ... the formation of Rosenthal fibers, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal ... Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA. The Alexander ...
    https://medlineplus.gov/genetics/gene/gfap - Genetics
  6. DSP gene 
    ... hair. Although these conditions are all related to impaired function of desmoplakin and abnormal desmosomes, it is unclear ... to an abnormally short version of desmoplakin and impaired function of desmosomes. However, the protein associated with LAEB ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
  7. TREX1 gene 
    ... described above). It is likely that absence or impaired function of the 3-prime repair exonuclease 1 enzyme ... retina).As in Aicardi-Goutières syndrome, absence or impaired function of the 3-prime repair exonuclease 1 enzyme ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  8. CLN4 disease 
    ... K, Scifo E, Tyynela J, Jalanko A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys ...
    https://medlineplus.gov/genetics/condition/cln4-disease - Genetics
  9. TWNK gene 
    ... result in reduced quantities of mtDNA (mtDNA depletion). Impaired mitochondrial function, especially in the nervous system (which requires a ... with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum Mol ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  10. JUP gene 
    ... and hair. Although these conditions are related to impaired function of plakoglobin and abnormal desmosomes, it is unclear ...
    https://medlineplus.gov/genetics/gene/jup - Genetics
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